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HAP1 (includes EG:15114) - huntingtin-associated protein 1
Entrez Gene Name: huntingtin-associated protein 1
Entrez GeneID: Human(9001)
, Mouse(15114), Rat(29430)
, Mouse(15114), Rat(29430) Synonyms: HAP1 (includes EG:15114), HAP2, hHLP1, HIP5, HLP, MGC31449, neuroan 1
Gene Summary
- Human (9001): Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
- Mouse (15114): The protein encoded by this gene was first identified as a neuronal protein that binds the HD protein huntingtin. The protein also interacts with kinesin light chain, 14-3-3 proteins, and Abelson helper integration site 1 protein. The protein is involved in intracellular trafficking of vesicles and organelles, and lack of the protein results in neuronal death resembling the hypothalamic degeneration that occurs in Huntington's disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
- Rat (29430): Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that is homologous to the human huntingtin-associated protein 1. The human protein interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Two transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Biological Process
brain development, cellular response to growth factor stimulus, early endosome to late endosome transport, positive regulation of neuron projection development, protein localization, synaptic transmission, vesicle transport along microtubule
Cellular Components
actin cytoskeleton, axon terminus, cytoplasmic membrane-bounded vesicle, cytoskeleton, dendrite, early endosome, growth cone, late endosome, neuron projection, perinuclear region of cytoplasm
Literature References
- 16169070Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE. A human protein-protein interaction network: a resource for annotating the proteome.Cell 2005 Sep 23;122(6):957-68
- 12873381Tang TS, Tu H, Chan EY, Maximov A, Wang Z, Wellington CL, Hayden MR, Bezprozvanny I. Huntingtin and huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1,4,5) triphosphate receptor type 1.Neuron 2003 Jul 17;39(2):227-39
- 20383523Foskett JK. Inositol trisphosphate receptor Ca(2+) release channels in neurological diseases.Pflugers Arch 2010 Jul 01;460(2):481-94
Protein Domains
coiled-coil domain, HAP1 N-terminal conserved region, huntingtin binding domain, leucine zipper domain, phosphorylation site, protein binding
Subcellular Locations
actin cytoskeleton, axon terminals, Cytoplasm, cytoskeleton, cytosol, cytosolic fraction, dendrites, dendritic spines, early endosomes, growth cone, intracellular storage compartment, intranuclear rods, late endosomes, membrane fraction, membrane processes, microtubules, mitochondria, nerve ending, neurites, Nucleus, perikaryon, perinuclear region, stigmoid bodies, synaptic vesicles